Article
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Metabolic brain disease - 1 Dec 2023
Aguech Ameni, Sfaihi Lamia, Alila-Fersi Olfa, Kolsi Roeya, Tlili Abdelaziz, Kammoun Thouraya, Fendri Ahmed, Fakhfakh Faiza
Abstract excerpt
The PIGO gene encodes the GPI-ethanolamine phosphate transferase 3, which is crucial for the final synthetic step of the glycosylphosphatidylinositol-anchor serving to attach various proteins to their cell surface. These proteins are intrinsic for normal neuronal and embryonic development. In the current research work, a clinical investigation was conducted on a patient from a consanguineous family suffering from...
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